Pseudoxanthoma elasticum is a disorder of connective tissue that causes abnormalities in the skin, eyes, and blood vessels.
Pseudoxanthoma elasticum stiffens the fibers that enable tissue to stretch and then spring back into place (elastic fibers). Elastic fibers are in the skin and various other tissues throughout the body, including blood vessels. The blood vessels may stiffen, losing their normal ability to expand and allow more blood to flow as needed. Stiffness also prevents the blood vessels from contracting.
The skin of the neck, underarms, and groin and around the navel eventually becomes thick, grooved, inflexible, and loose. Yellowish, pebbly bumps make the skin an appear similar to an orange or a plucked chicken. The change in appearance may be mild and overlooked during early childhood but becomes more noticeable as the child ages.
Stiff blood vessels lead to high blood pressure. Nosebleeds and bleeding in the brain, uterus, and intestine may occur. Too little blood flow may result in chest pain (angina) and leg pain while walking (intermittent claudication). Bleeding may continue for prolonged periods. Damage to the back of the eye (retina) can cause severe loss of vision or blindness.
Prognosis and Treatment
There is no cure for pseudoxanthoma elasticum nor any way to correct the abnormalities in the connective tissue. Treatment is aimed at preventing complications. People should avoid drugs that may cause stomach or intestinal bleeding, such as aspirin, other nonsteroidal anti-inflammatory drugs (NSAIDs), and anticoagulants. People with pseudoxanthoma elasticum should avoid contact sports because injury to the eye is a risk. Complications often limit life span.
Last full review/revision February 2008 by Frank Pessler, MD, PhD; David D. Sherry, MD